view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLHL4_chrX_87512802_87675050 | 87551568 | C | CAGATAGA others(13): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 259 | 0.0039 | 20 | c.422 others(39): Show |
KLHL4 | ENSG00000102271.14 | transcript | ENST00000373119.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KLHL4_chrX_87512802_87675050 | 87551587 | G | GTAGATAG others(13): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0246 | 1 | 259 | 0.0039 | 20 | c.422 others(39): Show |
KLHL4 | ENSG00000102271.14 | transcript | ENST00000373119.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KLHL4_chrX_87512802_87675050 | 87551608 | T | TAGATAGA others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00609.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(5): Show | a0001c0001t0001g0061a0001c0001t0001g0063a0001c0002t0002g0002others(25): Show | 30 | 259 | 0.1158 | 20 | c.422 others(39): Show |
KLHL4 | ENSG00000102271.14 | transcript | ENST00000373119.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KLHL4_chrX_87512802_87675050 | 87611659 | C | CATACTAT others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG00741.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0033a0001c0001t0001g0043others(21): Show | 24 | 259 | 0.0927 | 20 | c.423 others(37): Show |
KLHL4 | ENSG00000102271.14 | transcript | ENST00000373119.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KLHL5_chr4_39057232_39131233 | 39101124 | T | TTATATAC others(13): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG02055.hp2 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0003a0001c0001t0007a0001c0001t0015others(10): Show | a0001c0001t0003g0272a0001c0001t0007g0256a0001c0001t0007g0258others(16): Show | 19 | 304 | 0.0625 | 20 | c.130 others(39): Show |
KLHL5 | ENSG00000109790.18 | transcript | ENST00000504108.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KLHL6_chr3_183482551_183560706 | 183510874 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00741.hp1 others(10): Show |
a0001a0003 | a0001c0002a0001c0010a0003c0009 | a0001c0002t0003a0001c0002t0018a0001c0002t0033others(4): Show | a0001c0002t0003g0121a0001c0002t0003g0128a0001c0002t0003g0162others(9): Show | 13 | 298 | 0.0436 | 20 | c.460 others(37): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
KLHL6_chr3_183482551_183560706 | 183525263 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03516.hp1 NA18997.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0016 | a0001c0002t0010a0001c0002t0031a0001c0004t0056others(1): Show | a0001c0002t0010g0016a0001c0002t0031g0020a0001c0004t0056g0283others(1): Show | 4 | 298 | 0.0134 | 20 | c.459 others(37): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
KLHL6_chr3_183482551_183560706 | 183525265 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG02451.hp1 others(11): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0010others(3): Show | a0001c0002t0003a0001c0002t0018a0001c0002t0019others(9): Show | a0001c0002t0003g0121a0001c0002t0003g0157a0001c0002t0018g0091others(11): Show | 14 | 298 | 0.0470 | 20 | c.459 others(37): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
KLHL6_chr3_183482551_183560706 | 183542888 | A | ATGGATGG others(13): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0011 | a0001c0011t0029 | a0001c0011t0029g0101 | 1 | 298 | 0.0034 | 20 | c.293 others(39): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
KLHL7_chr7_23100785_23182914 | 23146667 | T | TTCTTCTT others(13): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0061 | 1 | 328 | 0.0031 | 20 | c.793 others(37): Show |
KLHL7 | ENSG00000122550.18 | transcript | ENST00000339077.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KLHL8_chr4_87155103_87225618 | 87209895 | C | CCAAGCTG others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0024a0001c0001t0039 | a0001c0001t0014g0028a0001c0001t0014g0029a0001c0001t0014g0030others(2): Show | 5 | 364 | 0.0137 | 20 | c.-15 others(41): Show |
KLHL8 | ENSG00000145332.14 | transcript | ENST00000273963.10 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
KLHL8_chr4_87155103_87225618 | 87223125 | G | GTTTGTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01496.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0032a0001c0001t0002g0058a0001c0001t0002g0060others(3): Show | 6 | 364 | 0.0165 | 20 | c.-28 others(31): Show |
KLHL8 | ENSG00000145332.14 | transcript | ENST00000273963.10 | protein_coding | 2508 | chr4 | TogoVar | |||||||
KLK10_chr19_51007739_51024709 | 51018164 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03834.hp2 NA18995.hp1 |
a0003 | a0003c0004 | a0003c0004t0008a0003c0004t0021 | a0003c0004t0008g0133a0003c0004t0021g0132 | 2 | 450 | 0.0044 | 20 | c.88+ others(33): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
KLK10_chr19_51007739_51024709 | 51020198 | C | CAGAGAGA others(13): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0099 | 1 | 450 | 0.0022 | 20 | c.-58 others(29): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 490 | chr19 | TogoVar | |||||||
KLK11_chr19_51017236_51031616 | 51018164 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 NA18995.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005a0002c0002t0001g0012 | 2 | 456 | 0.0044 | 20 | c.*43 others(31): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 4071 | chr19 | TogoVar | |||||||
KLK11_chr19_51017236_51031616 | 51020198 | C | CAGAGAGA others(13): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 456 | 0.0022 | 20 | c.*23 others(31): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 2037 | chr19 | TogoVar | |||||||
KLK11_chr19_51017236_51031616 | 51031595 | C | CATACATA others(13): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 456 | 0.0022 | 20 | c.-50 others(31): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 4980 | chr19 | TogoVar | |||||||
KLK12_chr19_51024094_51040002 | 51031595 | C | CATACATA others(13): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 448 | 0.0022 | 20 | c.457 others(35): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
KLK3_chr19_50849915_50865764 | 50865327 | T | TTTTCTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 NA18962.hp2 NA19058.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0038a0001c0001t0001g0085others(1): Show | 4 | 462 | 0.0087 | 20 | c.*52 others(31): Show |
KLK3 | ENSG00000142515.16 | transcript | ENST00000326003.7 | protein_coding | 4564 | chr19 | TogoVar | |||||||
KLK5_chr19_50938303_50958038 | 50945792 | A | AAAAAGAA others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00735.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0053a0001c0001t0001g0079others(29): Show | 38 | 380 | 0.1000 | 20 | c.727 others(37): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
KLRB1_chr12_9589551_9612916 | 9607332 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01175.hp1 NA18946.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005a0002c0002t0001g0068a0002c0002t0001g0109others(1): Show | 6 | 436 | 0.0138 | 20 | c.85+ others(33): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KLRB1_chr12_9589551_9612916 | 9607332 | T | TTTTCTTT others(13): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0323 | 1 | 436 | 0.0023 | 20 | c.85+ others(33): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KLRB1_chr12_9589551_9612916 | 9607335 | C | CCTTTCTT others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0209 | 1 | 436 | 0.0023 | 20 | c.85+ others(33): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KLRB1_chr12_9589551_9612916 | 9607335 | C | CCTTTCTT others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 436 | 0.0023 | 20 | c.85+ others(33): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KLRB1_chr12_9589551_9612916 | 9607339 | T | TCTTTCTT others(13): Show |
intron_variant | MODIFIER | NA18956.hp2 NA18959.hp2 NA18980.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0260a0001c0001t0002g0261others(1): Show | 6 | 436 | 0.0138 | 20 | c.85+ others(33): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KLRB1_chr12_9589551_9612916 | 9607339 | T | TCTTTCTT others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0012others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0036a0001c0001t0002g0037others(17): Show | 29 | 436 | 0.0665 | 20 | c.85+ others(33): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KLRB1_chr12_9589551_9612916 | 9607343 | T | TCTTTCTT others(13): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 436 | 0.0023 | 20 | c.85+ others(33): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KLRB1_chr12_9589551_9612916 | 9607355 | C | CCTTTCTT others(13): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02717.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0010a0001c0001t0003g0032a0001c0001t0003g0240others(1): Show | 7 | 436 | 0.0161 | 20 | c.85+ others(33): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KLRB1_chr12_9589551_9612916 | 9607366 | T | TTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0327a0001c0001t0004g0328 | 2 | 436 | 0.0046 | 20 | c.85+ others(33): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KLRB1_chr12_9589551_9612916 | 9607378 | T | TTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0356 | 1 | 436 | 0.0023 | 20 | c.85+ others(33): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KLRD1_chr12_10302870_10334608 | 10324818 | G | GTATATAT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00733.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0021others(21): Show | a0001c0001t0003g0001a0001c0001t0003g0018a0001c0001t0013g0004others(23): Show | 40 | 428 | 0.0935 | 20 | c.*10 others(33): Show |
KLRD1 | ENSG00000134539.17 | transcript | ENST00000336164.9 | protein_coding | 6/6 | 10051 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KLRD1_chr12_10302870_10334608 | 10324818 | G | GTGTATAT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01106.hp2 others(41): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(21): Show | a0001c0001t0002g0002a0001c0001t0002g0023a0001c0001t0005g0005others(23): Show | 44 | 428 | 0.1028 | 20 | c.*10 others(33): Show |
KLRD1 | ENSG00000134539.17 | transcript | ENST00000336164.9 | protein_coding | 6/6 | 10027 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KLRD1_chr12_10302870_10334608 | 10324818 | G | GTGTGTAT others(13): Show |
3_prime_UTR_variant | MODIFIER | NA18971.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0298a0001c0001t0300 | a0001c0001t0298g0007a0001c0001t0300g0007 | 2 | 428 | 0.0047 | 20 | c.*10 others(33): Show |
KLRD1 | ENSG00000134539.17 | transcript | ENST00000336164.9 | protein_coding | 6/6 | 10027 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KLRD1_chr12_10302870_10334608 | 10324818 | G | GTGTGTGT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0002 | 1 | 428 | 0.0023 | 20 | c.*10 others(33): Show |
KLRD1 | ENSG00000134539.17 | transcript | ENST00000336164.9 | protein_coding | 6/6 | 10027 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KLRF1_chr12_9822481_9850005 | 9833901 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 388 | 0.0026 | 20 | c.334 others(35): Show |
KLRF1 | ENSG00000150045.12 | transcript | ENST00000617889.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KLRK1_chr12_10367353_10395041 | 10385367 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02896.hp2 HG02897.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0002c0002t0006a0002c0002t0007 | a0001c0003t0003g0154a0002c0002t0006g0034a0002c0002t0006g0058others(2): Show | 6 | 438 | 0.0137 | 20 | c.148 others(37): Show |
KLRK1 | ENSG00000213809.9 | transcript | ENST00000240618.11 | protein_coding | 3/7 | chr12 | TogoVar | |||||||
KMO_chr1_241527378_241600642 | 241539383 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03225.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0010 | a0001c0002t0001g0136a0001c0002t0010g0323 | 2 | 422 | 0.0047 | 20 | c.54+ others(35): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMO_chr1_241527378_241600642 | 241548088 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG01081.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(9): Show | a0001c0001t0001g0250a0001c0001t0005g0101a0001c0001t0016g0129others(10): Show | 13 | 422 | 0.0308 | 20 | c.55- others(33): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMO_chr1_241527378_241600642 | 241549202 | G | GAAGGAAG others(13): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0158 | 1 | 422 | 0.0024 | 20 | c.124 others(35): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMO_chr1_241527378_241600642 | 241549252 | A | AGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(13): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0035a0001c0002t0001a0001c0002t0003others(7): Show | a0001c0001t0035g0223a0001c0002t0001g0221a0001c0002t0003g0169others(13): Show | 16 | 422 | 0.0379 | 20 | c.124 others(35): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMO_chr1_241527378_241600642 | 241549252 | A | AGAAAGAA others(13): Show |
intron_variant | MODIFIER | NA18992.hp2 NA19001.hp1 |
a0001 | a0001c0005 | a0001c0005t0003a0001c0005t0011 | a0001c0005t0003g0401a0001c0005t0011g0404 | 2 | 422 | 0.0047 | 20 | c.124 others(35): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMO_chr1_241527378_241600642 | 241549256 | A | AGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0025 | 1 | 422 | 0.0024 | 20 | c.124 others(35): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMO_chr1_241527378_241600642 | 241549266 | A | AAAGTCGG others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00597.hp1 others(64): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0350a0001c0001t0002g0225a0001c0001t0002g0309others(63): Show | 67 | 422 | 0.1588 | 20 | c.124 others(35): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMO_chr1_241527378_241600642 | 241554227 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | NA18949.hp2 NA19003.hp2 NA19005.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0005a0001c0008t0005a0001c0008t0009 | a0001c0001t0005g0182a0001c0008t0005g0005a0001c0008t0005g0163others(1): Show | 4 | 422 | 0.0095 | 20 | c.313 others(37): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMT2A_chr11_118431492_118531832 | 118477498 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03225.hp1 NA19030.hp1 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0155a0001c0004t0005g0196a0001c0004t0005g0197 | 3 | 200 | 0.0150 | 20 | c.333 others(37): Show |
KMT2A | ENSG00000118058.25 | transcript | ENST00000534358.8 | protein_coding | 4/35 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152141712 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0009 | a0003c0009t0004 | a0003c0009t0004g0110 | 1 | 172 | 0.0058 | 20 | c.143 others(41): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 55/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152235207 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02886.hp2 |
a0002 | a0002c0002a0002c0024 | a0002c0002t0002a0002c0024t0002 | a0002c0002t0002g0078a0002c0024t0002g0056 | 2 | 172 | 0.0116 | 20 | c.276 others(37): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 16/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152235207 | G | GTATGTAT others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 NA19043.hp1 |
a0002a0011 | a0002c0004a0002c0007a0011c0020 | a0002c0004t0002a0002c0007t0002a0011c0020t0002 | a0002c0004t0002g0028a0002c0007t0002g0052a0011c0020t0002g0060 | 3 | 172 | 0.0174 | 20 | c.276 others(37): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 16/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152249673 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0067 | 1 | 172 | 0.0058 | 20 | c.181 others(37): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 13/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152253514 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0084 | 1 | 172 | 0.0058 | 20 | c.130 others(37): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 9/58 | chr7 | TogoVar |